I have the pleasure of being able to share another FX Carrier mom's story today. She preferred to write it anonymously. Many carriers have heard her story w/her name attached, but as this is a bit more public, she wanted her name withheld. Here’s her story:
I hadn’t even known Fragile X existed until the day my son was tested for it at 19 months old. I didn’t read too much about it that night on the internet because the geneticist’s comment had been “I don’t think he has Fragile X, but when someone is being considered for an autism diagnosis, we also test for Fragile X.”
When my son was just over 21 months old, we received a call confirming he had Fragile X Syndrome. He had 1100 CGG repeats, which meant nothing to me then. A few months later he received a dual diagnosis of autism. And although we’ve come to accept how much he is affected by Fragile X and autism over the years, it was clear even early on that this was not a mild case on the spectrums of the two disorders. He’s now 10 and is nonverbal, has off-the-chart sensory issues, is not completely toilet trained, can be aggressive and the negatives list could go on. On the positive side, he is so darn cute, he gives great hugs and kisses, he has an awesome memory (when he wants to show it) and is often a joy to be around. But life with him can be exhausting.
We had a glimpse of this exhaustion by the time he was 2. Which is what helped my husband and I to agree on one thing: we did not want another child with Fragile X. We loved our son, but did not want to risk having another child as affected as our son.
But we disagreed on how to expand our family, which was a problem:
He wanted us to do IVF-PGD (I am scared of needles and pain; that’s not a good mix!).
He would’ve also agreed to the option of getting pregnant naturally and testing (via CVS or amnio) and terminating the pregnancy if the child had received my Fragile X-affected X. I couldn’t live with the termination part. Please note: I support others’ choice to use this method and see why they choose it, but I could not personally choose this route. In the end, I went through early menopause and these first two options were naturally closed off to us. This is exactly why some carriers considering the risks of FXPOI have their eggs harvested to keep all options open!
I have always been pro-adoption. I think God planted that seed in my head years ago since he had the knowledge of my FX carrier status. Unfortunately, I married someone who was not pro-adoption and at the time I thought it wouldn’t matter. It did and at times it still hurts both of us that we only have one child. Neither of us would’ve chosen this number to complete our family.
Which is why I feel so strongly about folks being tested at birth for Fragile X. Everyone needs to know their Fragile X status EARLY and grow up knowing about it in an age-appropriate way.
If parents learn their child has Fragile X Syndrome, they can help them get the best intervention as soon as possible, join support groups, attend conferences and learn much more to help the whole family!
If parents learn their child is a Fragile X carrier, they can watch for issues that may arise (some carriers have issues of their own, some actually have the same issues as someone with the full mutation or Fragile X Syndrome).
Parents can explain in small chunks as the child grows what this might mean for them so they won’t be blindsided later. I’ve seen people in crisis who jump online and ask strangers for help with the bombshell that was dropped at age 18, age 21 or age 25 while they are pregnant: the bombshell that they are a carrier or they have the risk of being a carrier. It’s a lot to take in all at once at any age and I feel for these folks. I’ve also seen some people who grow up knowing their FX status and it seems like a much more natural way to handle this, giving opportunities for the young person to process it over time.
If you grow up knowing you’re a carrier and learn to be comfortable with what that entails, it’ll naturally come up with the person you seriously date and/or plan to marry. The two of you can digest options you have and come to terms with those options before marriage. Living through the options still may be different and difficult later on, but at least you had the opportunity to discuss it early… maybe choose to marry someone with similar opinions about the options.
No matter what, it’s great to have information early and be able to gradually come to terms with it all in a more natural manner!